| 1 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 4.97 |
| 2 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 4.97 |
| 3 | Lung non-small cell carcinoma | Enrichment | EGFR, ERBB2 | 4.20 |
| 4 | Bladder cancer | Enrichment | CDKN1A, EGFR, ERBB2 | 4.15 |
| 5 | Lip and oral cavity carcinoma | Enrichment | EGFR, KIT | 4.13 |
| 6 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300 | 4.13 |
| 7 | Acute myeloid leukemia with maturation | Enrichment | KIT, NPM1 | 4.12 |
| 8 | Lung cancer susceptibility 3 | Enrichment | EGFR, ERBB2 | 3.99 |
| 9 | Ovarian cancer | Enrichment | EGFR, ERBB2, KIT | 3.77 |
| 10 | Axenfeld-rieger syndrome, type 1 | Enrichment | PITX2 | 3.53 |
| 11 | Anterior segment dysgenesis 4 | Enrichment | PITX2 | 3.53 |
| 12 | Ring dermoid of cornea | Enrichment | PITX2 | 3.53 |
| 13 | Atrial septal defect 8 | Enrichment | CITED2 | 3.53 |
| 14 | Sinus venosus atrial septal defect | Enrichment | CITED2 | 3.53 |
| 15 | Intellectual developmental disorder, autosomal recessive 65 | Enrichment | KDM5B | 3.43 |
| 16 | Spastic paraplegia 13, autosomal dominant | Enrichment | HSPD1 | 3.43 |
| 17 | Acute myeloid leukemia with multilineage dysplasia | Enrichment | NPM1 | 3.43 |
| 18 | Acute myeloid leukemia with npm1 somatic mutations | Enrichment | NPM1 | 3.43 |
| 19 | Lung cancer | Enrichment | EGFR, ERBB2 | 3.26 |
| 20 | Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities | Enrichment | PITX2 | 3.23 |
| 21 | Atrial fibrillation, familial, 1 | Enrichment | PITX2 | 3.23 |
| 22 | Ventricular septal defect 2 | Enrichment | CITED2 | 3.23 |
| 23 | Esotropia | Enrichment | TFAP2A | 3.23 |
| 24 | Axenfeld-rieger syndrome | Enrichment | PITX2 | 3.23 |
| 25 | Lens subluxation | Enrichment | TFAP2A | 3.23 |
| 26 | Burkitt lymphoma | Enrichment | MYC | 3.13 |
| 27 | Leukodystrophy, hypomyelinating, 4 | Enrichment | HSPD1 | 3.13 |
| 28 | Acute myeloid leukemia without maturation | Enrichment | NPM1 | 3.13 |
| 29 | Lymphomatoid papulosis | Enrichment | NPM1 | 3.13 |
| 30 | Primary cutaneous anaplastic large cell lymphoma | Enrichment | NPM1 | 3.13 |
| 31 | Char syndrome | Enrichment | TFAP2B | 3.13 |
| 32 | Scalp-ear-nipple syndrome | Enrichment | KCTD1 | 3.13 |
| 33 | Orofacial cleft 10 | Enrichment | SUMO1 | 3.13 |
| 34 | Patent ductus arteriosus 2 | Enrichment | TFAP2B | 3.13 |
| 35 | Esophagus squamous cell carcinoma | Enrichment | WWOX | 3.13 |
| 36 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 3.05 |
| 37 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 3.05 |
| 38 | Menke-hennekam syndrome | Enrichment | CREBBP | 3.05 |
| 39 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 2.96 |
| 40 | Paget disease, extramammary | Enrichment | ERBB2 | 2.96 |
| 41 | Mastocytosis, cutaneous | Enrichment | KIT | 2.96 |
| 42 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.96 |
| 43 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.96 |
| 44 | Chronic mast cell leukemia | Enrichment | KIT | 2.96 |
| 45 | Isolated bone marrow mastocytosis | Enrichment | KIT | 2.96 |
| 46 | Smoldering systemic mastocytosis | Enrichment | KIT | 2.96 |
| 47 | Mastocytosis | Enrichment | KIT | 2.96 |
| 48 | Cutaneous mastocytoma | Enrichment | KIT | 2.96 |
| 49 | Typical urticaria pigmentosa | Enrichment | KIT | 2.96 |
| 50 | Nodular urticaria pigmentosa | Enrichment | KIT | 2.96 |
| 51 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.96 |
| 52 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 2.96 |
| 53 | Acute mast cell leukemia | Enrichment | KIT | 2.96 |
| 54 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 2.96 |
| 55 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.96 |
| 56 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.96 |
| 57 | Testis seminoma | Enrichment | KIT | 2.96 |
| 58 | Branchiooculofacial syndrome | Enrichment | TFAP2A | 2.93 |
| 59 | Amblyopia | Enrichment | TFAP2A | 2.83 |
| 60 | Developmental and epileptic encephalopathy 28 | Enrichment | WWOX | 2.83 |
| 61 | Spinocerebellar ataxia, autosomal recessive 12 | Enrichment | WWOX | 2.83 |
| 62 | Familial patent arterial duct | Enrichment | TFAP2B | 2.83 |
| 63 | Tooth agenesis | Enrichment | SUMO1, TGFA | 2.77 |
| 64 | Branchiootorenal syndrome 1 | Enrichment | TFAP2A | 2.75 |
| 65 | Thumb deformity | Enrichment | CREBBP | 2.75 |
| 66 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.75 |
| 67 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.75 |
| 68 | Branchiootorenal syndrome | Enrichment | TFAP2A | 2.69 |
| 69 | Piebald trait | Enrichment | KIT | 2.66 |
| 70 | Gabriele-de vries syndrome | Enrichment | YY1 | 2.66 |
| 71 | Developmental and epileptic encephalopathy 78 | Enrichment | YY1 | 2.66 |
| 72 | Insulinoma | Enrichment | YY1 | 2.66 |
| 73 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 2.66 |
| 74 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 2.59 |
| 75 | Tethered spinal cord syndrome | Enrichment | CREBBP | 2.58 |
| 76 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 2.58 |
| 77 | Sea-blue histiocyte disease | Enrichment | APOE | 2.55 |
| 78 | Lipoprotein glomerulopathy | Enrichment | APOE | 2.55 |
| 79 | Cat eye syndrome | Enrichment | TFAP2A | 2.53 |
| 80 | Peters-plus syndrome | Enrichment | PITX2 | 2.53 |
| 81 | Estrogen resistance | Enrichment | ESR1 | 2.48 |
| 82 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.48 |
| 83 | Testicular germ cell cancer | Enrichment | KIT | 2.48 |
| 84 | Migraine without aura | Enrichment | ESR1 | 2.48 |
| 85 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.48 |
| 86 | Epicanthus | Enrichment | TFAP2A | 2.45 |
| 87 | Congenital nervous system abnormality | Enrichment | CREBBP, WWOX | 2.42 |
| 88 | Nervous system disease | Enrichment | CREBBP, WWOX | 2.42 |
| 89 | Intestinal pseudo-obstruction | Enrichment | TFAP2B | 2.35 |
| 90 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 2.35 |
| 91 | Barrett esophagus | Enrichment | ERBB2 | 2.35 |
| 92 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 2.35 |
| 93 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | KIT | 2.35 |
| 94 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 2.35 |
| 95 | Anterior segment dysgenesis | Enrichment | PITX2 | 2.35 |
| 96 | Acute promyelocytic leukemia | Enrichment | NPM1 | 2.32 |
| 97 | Esophageal cancer | Enrichment | WWOX | 2.29 |
| 98 | Hypertrichosis | Enrichment | CREBBP | 2.28 |
| 99 | Patent foramen ovale | Enrichment | CITED2 | 2.28 |
| 100 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | KIT | 2.26 |
| 101 | Leukemia, acute myeloid | Enrichment | KIT, NPM1 | 2.25 |
| 102 | Alzheimer disease 3 | Enrichment | APOE | 2.25 |
| 103 | Hyperlipoproteinemia, type iii | Enrichment | APOE | 2.25 |
| 104 | Acute myeloid leukemia with t(6;9) (p23;q34.1) | Enrichment | DEK | 2.25 |
| 105 | Microphthalmia | Enrichment | TFAP2A | 2.19 |
| 106 | Cowden syndrome 1 | Enrichment | EGFR | 2.18 |
| 107 | Testicular germ cell tumor | Enrichment | KIT | 2.18 |
| 108 | Lung squamous cell carcinoma | Enrichment | EGFR | 2.18 |
| 109 | Dyskeratosis congenita | Enrichment | NPM1 | 2.16 |
| 110 | Familial atrial fibrillation | Enrichment | PITX2 | 2.15 |
| 111 | Leukodystrophy | Enrichment | HSPD1 | 2.13 |
| 112 | Tetralogy of fallot | Enrichment | CITED2 | 2.12 |
| 113 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 2.11 |
| 114 | Gastrointestinal stromal tumor | Enrichment | KIT | 2.11 |
| 115 | Charge syndrome | Enrichment | EP300 | 2.10 |
| 116 | Alzheimer disease 4 | Enrichment | APOE | 2.08 |
| 117 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 2.07 |
| 118 | Glioma susceptibility 1 | Enrichment | ERBB2 | 2.05 |
| 119 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, KIT | 2.04 |
| 120 | Visceral heterotaxy 5 | Enrichment | CITED2 | 2.04 |
| 121 | 46,xy partial gonadal dysgenesis | Enrichment | WWOX | 1.99 |
| 122 | Macular degeneration, age-related, 1 | Enrichment | APOE | 1.95 |
| 123 | Migraine with or without aura 1 | Enrichment | ESR1 | 1.92 |
| 124 | Heart disease | Enrichment | CREBBP | 1.91 |
| 125 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.88 |
| 126 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.88 |
| 127 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.88 |
| 128 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.88 |
| 129 | Alzheimer disease 2 | Enrichment | APOE | 1.86 |
| 130 | Craniosynostosis | Enrichment | TFAP2B | 1.83 |
| 131 | Hypertelorism | Enrichment | TFAP2A | 1.82 |
| 132 | Diffuse large b-cell lymphoma | Enrichment | CREBBP | 1.78 |
| 133 | Lipid metabolism disorder | Enrichment | APOE | 1.78 |
| 134 | Gliosarcoma | Enrichment | EGFR | 1.76 |
| 135 | Developmental and epileptic encephalopathy 1 | Enrichment | WWOX | 1.74 |
| 136 | Autosomal dominant non-syndromic intellectual disability | Enrichment | KDM5B | 1.74 |
| 137 | Giant cell glioblastoma | Enrichment | EGFR | 1.73 |
| 138 | Arteriovenous malformations of the brain | Enrichment | EGFR | 1.68 |
| 139 | Scoliosis | Enrichment | CREBBP | 1.68 |
| 140 | Autosomal recessive non-syndromic intellectual disability | Enrichment | KDM5B | 1.67 |
| 141 | Myocardial infarction | Enrichment | ESR1 | 1.62 |
| 142 | Colorectal cancer | Enrichment | EP300, ERBB2 | 1.61 |
| 143 | Epilepsy | Enrichment | WWOX | 1.54 |
| 144 | Benign epilepsy with centrotemporal spikes | Enrichment | WWOX | 1.53 |
| 145 | Centralopathic epilepsy | Enrichment | WWOX | 1.50 |
| 146 | Hirschsprung disease 1 | Enrichment | ERBB2 | 1.50 |
| 147 | West syndrome | Enrichment | WWOX | 1.50 |
| 148 | Alzheimer's disease | Enrichment | APOE | 1.45 |
| 149 | Autism spectrum disorder | Enrichment | KDM5B | 1.40 |
| 150 | Undetermined early-onset epileptic encephalopathy | Enrichment | WWOX | 1.39 |
| 151 | Familial hypercholesterolemia | Enrichment | APOE | 1.38 |
| 152 | Gastric cancer | Enrichment | ERBB2 | 1.33 |
| 153 | Alzheimer disease, familial, 1 | Enrichment | APOE | 1.33 |
| 154 | Hereditary breast carcinoma | Enrichment | ESR1 | 1.32 |
| 155 | Myeloma, multiple | Enrichment | CREBBP | 1.31 |
| 156 | Autism | Enrichment | CREBBP | 1.21 |
| 157 | Breast cancer | Enrichment | ESR1 | 1.10 |
| 158 | Microcephaly | Enrichment | EP300 | 0.98 |